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Results 1 - 8 of 8 for Congenital anemia
  1. CDAN1 gene 
    ... CDAN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. Most of these mutations change ... Condition CDA-I CDA1 CDAI CDAN1_HUMAN codanin congenital dyserythropoietic anemia, type I DLT PRO1295 Tests of CDAN1 PubMed ...
    https://medlineplus.gov/genetics/gene/cdan1 - Genetics
  2. SEC23B gene 
    ... SEC23B gene have been identified in people with congenital dyserythropoietic anemia (CDA) type II. Most of these mutations change ... SEC23B NCBI Gene ClinVar Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? ...
    https://medlineplus.gov/genetics/gene/sec23b - Genetics
  3. TRNT1 gene 
    ... Holcik M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  4. ALAS2 gene 
    ... aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. Blood. 2003 Jul 15;102(2):698-704. doi: 10.1182/blood-2002-06-1623. Epub 2003 Mar 27. Citation on PubMed Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5( ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics
  5. EPOR gene 
    ... Rainey S, Lappin TR, Maxwell AP. Pathophysiology of anemia and erythrocytosis. ... primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6): ...
    https://medlineplus.gov/genetics/gene/epor - Genetics
  6. PIGT gene 
    ... to a shortage of red blood cells (hemolytic anemia) and blood in the urine. Studies ... congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  7. SLC25A19 gene 
    ... thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and ... is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175- ...
    https://medlineplus.gov/genetics/gene/slc25a19 - Genetics
  8. LPIN2 gene 
    ... bone disease, a shortage of red blood cells (anemia), and inflammatory skin disorders. More About This Health Condition ... of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005 ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics